Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4092

Name

SMAD7

Synonymous

CRCS3|MADH7|MADH8;SMAD family member 7;SMAD7;SMAD family member 7

Definition

MAD (mothers against decapentaplegic, Drosophila) homolog 7|MAD homolog 8|Mothers against decapentaplegic, drosophila, homolog of, 7|SMAD, mothers against DPP homolog 7|hSMAD7|mothers against DPP homolog 8|mothers against decapentaplegic homolog 7

Position

18q21.1

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for SMAD7

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.E189*; chr18:46476230-46476230

lungsquamous_cell_carcinoma; carcinoma

p.A223S; chr18:46474754-46474754

lungsquamous_cell_carcinoma; carcinoma

p.P350>?; chr18:46447972-46447973

lungadenocarcinoma; carcinoma


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